Search Our Scientific Publications & Authors

CEN Case Rep 2019 Mar 21. Epub 2019 Mar 21.

Department of Nephrology, Hiroshima University Hospital, 1-2-3 Kasumi, Minami-ku, Hiroshima, 7348551, Japan.

McArdle disease (glycogen storage disease type V) is a rare hereditary metabolic myopathy. It can be overlooked clinically because it often presents as chronic asymptomatic hypercreatine phosphokinasemia (hyperCKemia). However, vigorous exercise or infections can trigger severe rhabdomyolysis. Read More

QJM 2019 Apr;112(4):281-282

From the Department of Endocrinology, Metabolism and Nephrology, Kochi University, Kohasu, Oko-cho, Nankoku, Kochi, Japan.

Eur Radiol 2018 Dec 17. Epub 2018 Dec 17.

Department of Neurology, BG-University Hospital Bergmannsheil, Ruhr-University Bochum, Bochum, Germany.

Purpose: To evaluate differences in diffusion parameters in thigh muscles in patients with glycogen storage disease type V (McArdle disease) using muscle diffusion tensor imaging (mDTI) compared to healthy controls METHODS: In this prospective study, we evaluated thigh muscles from hip to knee of 10 McArdle patients (5 female, mean age 33.7 ± 14.4 years) and 10 healthy age- and gender-matched volunteers. Read More

J Cachexia Sarcopenia Muscle 2019 Feb 21;10(1):35-53. Epub 2018 Nov 21.

Institut NeuroMyoGene (INMG), Université Lyon 1, CNRS UMR 5310, INSERM U 1217, Lyon, France.

Background: The protein kinase mechanistic target of rapamycin (mTOR) controls cellular growth and metabolism. Although balanced mTOR signalling is required for proper muscle homeostasis, partial mTOR inhibition by rapamycin has beneficial effects on various muscle disorders and age-related pathologies. Besides, more potent mTOR inhibitors targeting mTOR catalytic activity have been developed and are in clinical trials. Read More

J Neuromuscul Dis 2018;5(3):353-357

Department of Rehabilitation, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands.

Background: Exertional myalgia and cramps of the limb and trunk muscles are typical in McArdle disease, but mastication and oral motor limitations have not been systematically investigated before.

Objective: Determine the reported prevalence and characteristics of limitations on oral motor activities, mastication, swallowing, and other oral motor activities in patients with McArdle disease.

Methods: An observational study was carried out in 28 patients using a standardised questionnaire on mastication and oral motor function. Read More

Semin Pediatr Neurol 2018 07 1;26:50-51. Epub 2017 Apr 1.

Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR. Electronic address:

We present the case of a young woman with worsening attacks of muscle pain and rhabdomyolysis beginning at age 14. Initial metabolic testing and electromyography revealed findings of a nonspecific myopathy. Diagnostic options were discussed among the members of a neurogenetics clinic team. Read More

Acta Neurol Scand 2018 Oct 10;138(4):301-307. Epub 2018 May 10.

Physiology Department- EA 4324, CHRU Cavale Blanche, Brest, France.

Objective: As exercise intolerance and exercise-induced myalgia are commonly encountered in metabolic myopathies, functional screening tests are commonly used during the diagnostic work-up. Our objective was to evaluate the accuracy of isometric handgrip test (IHT) and progressive cycle ergometer test (PCET) to identify McArdle disease and myoadenylate deaminase (MAD) deficiency and to propose diagnostic algorithms using exercise-induced lactate and ammonia variations.

Methods: A prospective sample of 46 patients underwent an IHT and a PCET as part of their exercise-induced myalgia and intolerance evaluation. Read More

Gynecol Endocrinol 2018 Sep 21;34(9):736-739. Epub 2018 Mar 21.

a Department of Gynecology and Obstetrics, Division of Obstetrics and Feto-maternal Medicine , Medical University of Vienna , Vienna , Austria.

McArdle disease or glycogen storage disease (GSD) type V is a rare autosomal recessive inherited disorder in skeletal muscle metabolism leading to exercise intolerance, muscle cramps and in some cases to rhabdomyolysis and acute renal failure due to elevated serum myoglobin levels. Albeit the uterine smooth muscle is not affected, pregnancy and delivery can be physically strenuous and may require specific anesthesiologic care. However, data on pregnancy progress and outcome and on special implications linked to anesthesia in women with McArdle's disease is scarce, thus posing a challenge to pre- and peripartal management. Read More

BMJ Case Rep 2018 Feb 1;2018. Epub 2018 Feb 1.

Department of Nephrology, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.

We present a case of a 51-year-old man who went to the emergency department after an almost-drowning episode, presenting with muscular weakness, myalgia and dark urine. Laboratory data showed a severe rhabdomyolysis (creatine kinase 497 510 U/L). Despite aggressive fluid therapy, an oliguric acute kidney injury was established with temporary need of haemodialysis. Read More

Eur J Hum Genet 2018 05 25;26(5):758-764. Epub 2018 Jan 25.

Harry Perkins Institute of Medical Research, QEII Medical Centre, QQ Block, Nedlands, WA, 6009, Australia.

Name of the disease (synonyms) McArdle disease (glycogenosis type V; glycogen storage disease V (GSDV); PYGM deficiency; muscle glycogen phosphorylase deficiency; myophosphorylase deficiency). OMIM# of the disease #232600. Name of the analysed genes or DNA/chromosome segments Muscle glycogen phosphoryalse (PYGM). Read More

JBJS Case Connect 2017 Jul-Sep;7(3):e49

1OhioHealth Doctors Hospital, Columbus, Ohio2OhioHealth Orthopedic Trauma and Reconstruction Surgeons, Grant Medical Center, Columbus, Ohio.

Case: McArdle disease, a glycogen storage disorder, often manifests as exercise intolerance secondary to muscle ischemia. Few authors have reported on rhabdomyolysis or compartment syndrome following inciting events among patients with McArdle disease. We present the case of a 40-year-old woman who developed spontaneous compartment syndrome of the right forearm and subsequently underwent emergency fasciotomy. Read More

Med Sci Sports Exerc 2018 Jan;50(1):3-10

GENUD Toledo Research Group, Universidad de Castilla-La Mancha, Toledo, SPAIN.

Introduction-purpose: McArdle disease (muscle glycogen phosphorylase deficiency) is a genetic condition associated with exercise intolerance, but how it affects lean mass (LM) and bone mineral content (BMC) and density (BMD) in patients is unknown. We compared these variables between McArdle patients and age-/sex-matched healthy controls and assessed their potential association with physical activity levels in patients.

Methods: A case-control, cross-sectional design was used to examine LM, BMC, and BMD by using dual-energy x-ray absorptiometry in 136 young adults of both sexes (36 McArdle patients (33 ± 15 yr) and 103 controls (34 ± 11 yr)). Read More

Mol Genet Metab 2018 01 21;123(1):21-27. Epub 2017 Nov 21.

Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark. Electronic address:

Background: McArdle disease (glycogen storage disease type V) is an inborn error of skeletal muscle metabolism, which affects glycogen phosphorylase (myophosphorylase) activity leading to an inability to break down glycogen. Patients with McArdle disease are exercise intolerant, as muscle glycogen-derived glucose is unavailable during exercise. Metabolic adaptation to blocked muscle glycogenolysis occurs at rest in the McArdle mouse model, but only in highly glycolytic muscle. Read More

BMC Genomics 2017 Nov 14;18(Suppl 8):819. Epub 2017 Nov 14.

Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid, Spain.

Background: We recently described the genotype/phenotype features of all Spanish patients diagnosed with McArdle disease as of January 2011 (n = 239, prevalence of ~1/167,000) (J Neurol Neurosurg Psychiatry 2012;83:322-8). Several caveats were however identified suggesting that the prevalence of the disease is actually higher.

Methods: We have now updated main genotype/phenotype data, as well as potential associations within/between them, of all Spanish individuals currently diagnosed with McArdle disease (December 2016). Read More

Neuromuscul Disord 2017 Nov 16;27(11):997-1008. Epub 2017 Jun 16.

Department of Neurology, Istanbul University, Istanbul Medical Faculty, Istanbul, Turkey. Electronic address:

This study aimed to identify PYGM mutations in patients with McArdle disease from Turkey by next generation sequencing (NGS). Genomic DNA was extracted from the blood of the McArdle patients (n = 67) and unrelated healthy volunteers (n = 53). The PYGM gene was sequenced with NGS and the observed mutations were validated by direct Sanger sequencing. Read More

Stem Cell Res 2017 08 28;23:188-192. Epub 2017 Jul 28.

Departamento de Bioquímica, Facultad de Medicina, Universidad Autónoma de Madrid, Spain; Instituto de Investigaciones Biomédicas "Alberto Sols", (UAM-CSIC) Madrid, Spain; Centro de Investigación Biomédica en Red (CIBERER), Madrid, Spain; Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12), Madrid, Spain. Electronic address:

Human iPSC line IISHDOi001-A was generated from fibroblasts of a patient with McArdle disease harbouring the mutation, c.148C>T; p.Arg50Ter, in the PYGM gene. Read More

J Clin Neurosci 2017 Dec 5;46:62-64. Epub 2017 Sep 5.

Department of Neurology, Mayo Clinic, Rochester, MN, United States. Electronic address:

A 35year-old male developed myalgias after moving furniture and was hospitalized with acute renal failure and rhabdomyolysis requiring hemodialysis. He then had several generalized tonic-clonic seizures. Brain MRI showed findings of posterior reversible encephalopathy syndrome (PRES). Read More

Mol Genet Metab 2017 11 25;122(3):117-121. Epub 2017 Aug 25.

Department of Neurology & Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, TX, USA; Neuromuscular Center, Institute for Exercise and Environmental Medicine of Texas Health Presbyterian Hospital, Dallas, USA; North Texas VA Health Care System, Dallas, TX, USA. Electronic address:

Objective: We investigated metabolism and physiological responses to exercise in an 18-year-old woman with multiple congenital abnormalities and exertional muscle fatigue, tightness, and rhabdomyolysis.

Methods: We studied biochemistry in muscle and fibroblasts, performed mutation analysis, assessed physiological responses to forearm and cycle-ergometer exercise combined with stable-isotope techniques and indirect calorimetry, and evaluated the effect of IV glucose infusion and oral sucrose ingestion on the exercise response.

Results: Phosphoglucomutase type 1 (PGM1) activity in muscle and fibroblasts was severely deficient and PGM1 in muscle was undetectable by Western blot. Read More

J ECT 2017 12;33(4):e36-e37

Department of Anesthesiology, Sainte Marguerite University Hospital, Marseille, France Department of Psychiatry, Sainte Marguerite University Hospital, Marseille, France Department of Anesthesiology, Sainte Marguerite University Hospital, Marseille, France Department of Psychiatry, Sainte Marguerite University Hospital, Marseille, France

Proc Natl Acad Sci U S A 2017 08 17;114(31):8402-8407. Epub 2017 Jul 17.

Howard Hughes Medical Institute, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114;

McArdle disease and mitochondrial myopathy impair muscle oxidative phosphorylation (OXPHOS) by distinct mechanisms: the former by restricting oxidative substrate availability caused by blocked glycogen breakdown, the latter because of intrinsic respiratory chain defects. We applied metabolic profiling to systematically interrogate these disorders at rest, when muscle symptoms are typically minimal, and with exercise, when symptoms of premature fatigue and potential muscle injury are unmasked. At rest, patients with mitochondrial disease exhibit elevated lactate and reduced uridine; in McArdle disease purine nucleotide metabolites, including xanthine, hypoxanthine, and inosine are elevated. Read More

Neuromuscul Disord 2017 Sep 3;27(9):852-855. Epub 2017 May 3.

MRC Centre for Neuromuscular Diseases and Department of Molecular Neuroscience, University College London Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital, London WC1N 3JH, UK.

Diagnosis of McArdle disease is frequently delayed by many years following the first presentation of symptoms to a health professional. The aim of this study was to investigate the importance of misdiagnosis in delaying diagnosis of McArdle disease. The frequency of misdiagnosis, duration of diagnostic delay, categories of misdiagnoses and inappropriate medical interventions were assessed in 50 genetically confirmed patients. Read More

J Physiol 2017 05;595(9):2991-2992

Universidad Pablo de Olavide, Sevilla, Spain.

J Physiol 2017 05;595(9):2993-2994

Australian Institute of Sport, Canberra, and Mary MacKillop Institute for Health Research, Australian Catholic University, Melbourne, Australia.

Muscle Nerve 2018 Jan 21;57(1):157-160. Epub 2017 Mar 21.

Département de Neurologie, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, 1 Avenue Molière, 67098, Strasbourg, France.

Introduction: McArdle disease is a glycogen storage disease caused by mutations in the PYGM gene encoding myophosphorylase. It manifests classically with childhood-onset exercise-induced pain.

Methods: We report the characteristics of 2 unrelated patients with a new homozygous mutation of the PYGM gene. Read More

Continuum (Minneap Minn) 2016 Dec;22(6, Muscle and Neuromuscular Junction Disorders):1829-1851

Purpose Of Review: Metabolic myopathies are genetic disorders that impair intermediary metabolism in skeletal muscle. Impairments in glycolysis/glycogenolysis (glycogen-storage disease), fatty acid transport and oxidation (fatty acid oxidation defects), and the mitochondrial respiratory chain (mitochondrial myopathies) represent the majority of known defects. The purpose of this review is to develop a diagnostic and treatment algorithm for the metabolic myopathies. Read More

Am J Case Rep 2016 Nov 30;17:905-908. Epub 2016 Nov 30.

MRC Centre for Neuromuscular Diseases and Division of Neuropathology, University College London Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, United Kingdom.

BACKGROUND McArdle disease is a glycogen storage disorder mainly characterized by exercise intolerance. Prolonged muscle contracture is also a feature of this condition and may lead to rhabdomyolysis (RM), which is a serious event characterized by acute skeletal muscle damage.  CASE REPORT A 44-year-old female patient presented with an acute contracture of the posterior neck muscles, causing severe nuchal rigidity. Read More

Muscle Nerve 2017 06 16;55(6):916-918. Epub 2016 Dec 16.

Division of Exercise Science and Sports Medicine, Department of Human Biology, University of Cape Town, PO Box 115, Newlands, 7725, South Africa.

Introduction: McArdle disease is a metabolic myopathy that presents with exercise intolerance and episodic rhabdomyolysis. Excessive muscle recruitment has also been shown to be present during strenuous exercise, suggesting decreased power output. These findings could potentially be explained by either impaired contractility, decreased fiber size, or altered fiber type proportion. Read More

Genet Med 2016 11 25;18(11):1128-1135. Epub 2016 Feb 25.

Laboratorio de Enfermedades Mitocondriales y Neuromusculares, Hospital 12 de Octubre, Madrid, Spain.

Purpose: McArdle disease is a metabolic disorder caused by pathogenic mutations in the PYGM gene. Timely diagnosis can sometimes be difficult with direct genomic analysis, which requires additional studies of cDNA from muscle transcripts. Although the "nonsense-mediated mRNA decay" (NMD) eliminates tissue-specific aberrant transcripts, there is some residual transcription of tissue-specific genes in virtually all cells, such as peripheral blood mononuclear cells (PBMCs). Read More

Neurol Res 2016 Dec 20;38(12):1052-1055. Epub 2016 Oct 20.

a Department of Neurology , Martin-Luther-University Halle-Wittenberg , Halle (Saale) , Germany.

During physical activity in McArdle patients, little or no lactate is released in the skeletal muscle. However, excessive ammonia production has frequently been reported in these patients. Production of ammonia is catalysed by AMP deaminase (AMPD) and adenylate kinase (AK). Read More

J Appl Physiol (1985) 2016 09 21;121(3):699-708. Epub 2016 Jul 21.

Institute of Molecular Bioimaging and Physiology, National Research Council, Segrate, Italy; Department of Medical and Biological Sciences, University of Udine, Udine, Italy.

Aerobic training can be effective in patients with mitochondrial myopathies (MM) and McArdle's disease (McA). The aim of the study was to use noninvasive functional evaluation methods, specifically aimed at skeletal muscle oxidative metabolism, to evaluate the effects of an aerobic exercise training (cycle ergometer, 12 wk, 4 days/wk, ∼65-70% of maximal heart rate) in 6 MM and 7 McA. Oxygen uptake and skeletal muscle vastus lateralis fractional O2 extraction by near-infrared spectroscopy were assessed during incremental and low-intensity constant work rate (CWR) exercises before (BEFORE) and at the end (AFTER) of training. Read More

Med Sci Sports Exerc 2016 08;48(8):1447

Texas A&M University College Station, TX.

J Clin Psychopharmacol 2016 Aug;36(4):406-8

Department of Nephrology-Transplantation University Hospital Dijon, France Association Néphrologie-Dialyse-Transplantation Dijon, France Department of Nephrology-Transplantation University Hospital Dijon, France

Am J Physiol Regul Integr Comp Physiol 2016 08 8;311(2):R307-14. Epub 2016 Jun 8.

Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark;

McArdle disease (muscle glycogenosis type V) is a disease caused by myophosphorylase deficiency leading to "blocked" glycogen breakdown. A significant but varying glycogen accumulation in especially distal hind limb muscles of mice affected by McArdle disease has recently been demonstrated. In this study, we investigated how myophosphorylase deficiency affects glucose metabolism in hind limb muscle of 20-wk-old McArdle mice and vastus lateralis muscles from patients with McArdle disease. Read More

J Clin Neurol 2016 Jul 3;12(3):373-5. Epub 2016 Jun 3.

Department of Neurology, Mokdong Hospital, Ewha Womans University School of Medicine, Seoul, Korea.

Acta Myol 2015 Dec;34(2-3):120-125

Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.

McArdle's disease is the most common metabolic myopathy of muscle carbohydrate metabolism, due to deficiency of myophosphorylase and alteration of glycogen breakdown in muscle. The clinical manifestations usually begin in young adulthood, with exercise intolerance, exercise-induced muscle cramps, pain and recurrent episodes of myoglobinuria. Many patients experience the second wind phenomenon, characterized by an improved tolerance for aerobic exercise approximately after eight minutes of motor activity, secondary to the increased availability of blood glucose and free fatty acids associated to an enhanced glucose uptake by muscle cells. Read More

Med Sci Sports Exerc 2016 08;48(8):1448-58

1Mitochondrial and Neuromuscular Diseases Laboratory and "MITOLAB-CM," Research Institute of Hospital "12 de Octubre" ("i + 12"), Madrid, SPAIN; 2Neuromuscular and Neuropediatric Research Group, Neurosciences Department, Germans Trias i Pujol Research Institute and Campus Can Ruti, Autonomous University of Barcelona, Badalona, SPAIN; 3Department of Research and Doctorate Studies, European University, Madrid, SPAIN; 4Neuromuscular and Mitochondrial Pathology Department, Vall d'Hebron University Hospital, Research Institute (VHIR), Autonomous University of Barcelona, Barcelona, SPAIN; and 5Spanish Network for Biomedical Research in Rare Diseases (CIBERER), U723, Madrid, SPAIN.

Introduction: We recently generated a knock-in mouse model (PYGM p.R50X/p.R50X) of the McArdle disease (myophosphorylase deficiency). Read More

J Neuropathol Exp Neurol 2016 May 30;75(5):441-54. Epub 2016 Mar 30.

From the Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark (TOK, TLN, JV); and Mitochondrial Pathology and Neuromuscular Disorders Laboratory, Vall d'Hebron Research Institute, Barcelona, Spain and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain (TP, AB, ALA).

McArdle disease (muscle glycogenosis type V) is caused by myophosphorylase deficiency, which leads to impaired glycogen breakdown. We investigated how myophosphorylase deficiency affects muscle physiology, morphology, and glucose metabolism in 20-week-old McArdle mice and compared the findings to those in McArdle disease patients. Muscle contractions in the McArdle mice were affected by structural degeneration due to glycogen accumulation, and glycolytic muscles fatigued prematurely, as occurs in the muscles of McArdle disease patients. Read More

Curr Pharm Des 2016 ;22(18):2657-63

Research Institute of Hospital 12 de Octubre (i+12), 6th Floor, Laboratories Sector, CAA Building, Avda. de Córdoba s/n, 28041 Madrid, Spain.

The intent of this article is to summarize current body of knowledge on the potential implication of the xanthine oxidase pathway (XO) on skeletal muscle damage. The possible involvement of the XO pathway in muscle damage is exemplified by the role of XO inhibitors (e.g. Read More

Masui 2015 Nov;64(11):1203-5

McArdle disease, known as type V glycogen storage disease, is a rare skeletal muscle disorder. Patients with McArdle disease lack skeletal muscle specific glycogen phosphorylase, and myophosphorylase. This subsequently leads to an elevation in serum creatine kinase levels, and results in suffering from exercise intolerance. Read More

J Hand Surg Am 2015 Dec;40(12):2377-9

Division of Plastic and Reconstructive Surgery, Department of Surgery, Washington University School of Medicine, Saint Louis, MO.

Glycogen storage disorders are rare diseases of metabolism that are usually diagnosed when a patient presents with recurrent fatigue, muscle pains, and exercise intolerance. In this case report, we describe a patient who presented with the second episode of nontraumatic compartment syndrome over a 10-year span. Because of the obscure presentation, we performed a muscle biopsy, which on muscle phosphorylase staining revealed McArdle disease (glycogen storage disease type V). Read More

Med Sci Sports Exerc 2016 Apr;48(4):673-9

1Translational Research Laboratoy in Neuromuscular Diseases, Neurosciences Department, Germans Trias i Pujol Research Institute and Campus Can Ruti, Autonomous University of Barcelona, Badalona, SPAIN; 2Sports Sciences and Computing Department, Pablo de Olavide University, Sevilla, SPAIN; 312 de Octubre Hospital Research Institute (i + 12), Madrid, SPAIN; 4Mitochondrial and Neuromuscular Diseases Laboratory, 12 de Octubre Hospital, Madrid, SPAIN; 5Centre for Biomedical Network Research on Rare Diseases (CIBERER), Carlos III Health Institute, Madrid, SPAIN; 6Centre for Sports Medicine and Human Performance, Brunel University, London, UNITED KINGDOM; 7Neuromuscular and Mitochondrial Pathology Department, Vall d'Hebron University Hospital, Research Institute (VHIR), Autonomous University of Barcelona, Barcelona, SPAIN; 8Rare Diseases Unit, Pediatric Service, Germans Trias i Pujol University Hospital, Badalona, Barcelona, SPAIN; 9Neuromuscular Unit Neurology Service, Germans Trias i Pujol University Hospital, Badalona, Barcelona, SPAIN; and 10School of Research and Doctorate Studies, European University, Madrid, SPAIN.

McArdle disease is due to an inborn defect in the muscle isoform of glycogen phosphorylase (or "myophosphorylase"), the enzyme that catalyzes the first step of glycogenolysis. This condition is still not fully understood, and although advances in research would help patients immeasurably, these would also enhance our understanding of exercise metabolism. It has been 10 yr since the first published report demonstrating the benefits of regular aerobic exercise for these patients. Read More

Physiol Genomics 2016 Feb 13;48(2):93-100. Epub 2015 Oct 13.

Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid, Spain; and Universidad Europea, Madrid, Spain.

McArdle disease (glycogen storage disease type V) is caused by inherited deficiency of a key enzyme in muscle metabolism, the skeletal muscle-specific isoform of glycogen phosphorylase, "myophosphorylase," which is encoded by the PYGM gene. Here we review the main pathophysiological, genotypic, and phenotypic features of McArdle disease and their interactions. To date, moderate-intensity exercise (together with pre-exercise carbohydrate ingestion) is the only treatment option that has proven useful for these patients. Read More

Physiol Genomics 2016 Feb 22;48(2):82-92. Epub 2015 Sep 22.

Department of Neurosciences, Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol i Campus Can Ruti, Universitat Autònoma de Barcelona, Badalona, Spain; and Instituto de Investigación Hospital 12 de Octubre (i+12) and Universidad Europea, Madrid, Spain.

The extremes of exercise capacity and health are considered a complex interplay between genes and the environment. In general, the study of animal models has proven critical for deep mechanistic exploration that provides guidance for focused and hypothesis-driven discovery in humans. Hypotheses underlying molecular mechanisms of disease and gene/tissue function can be tested in rodents to generate sufficient evidence to resolve and progress our understanding of human biology. Read More

No To Hattatsu 2015 Mar;47(2):94-8

Curr Rheumatol Rep 2015 Oct;17(10):63

Johns Hopkins University School of Medicine, Baltimore, MD, USA.

Patients with autoimmune myositis typically present with muscle weakness, elevated serum levels of muscle enzymes, and abnormal muscle biopsies. However, patients with other acquired myopathies or genetic muscle diseases may have remarkably similar presentations. Making the correct diagnosis of another muscle disease can prevent these patients from being exposed to the risks of immunosuppressive medications, which benefit those with myositis, but not those with other types of muscle disease. Read More

Genet Med 2015 Aug;17(8):680-1

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Betheseda, Maryland, USA.

Genet Med 2015 Aug;17(8):679-80

1] Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid, Spain [2] Universidad Europea, Madrid, Spain.

Reumatol Clin 2016 May-Jun;12(3):161-3. Epub 2015 Jul 30.

Servicio de Anatomía Patológica, Hospital Meixoeiro, Vigo, España.

A high serum level of creatine kinase (CK) is a common reason for referring to medical specialities. Myopathies are one of the causes of elevated levels of CK. McArdle disease is the most common disorder of skeletal muscle carbohydrate metabolism. Read More

Muscle Nerve 2015 Dec 24;52(6):1136-7. Epub 2015 Sep 24.

Department of Neurosciences, Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol I Campus Can Ruti, Universitat Autònoma de Barcelona, Badalona, Spain.

Neuromuscul Disord 2015 Sep 27;25(9):739-45. Epub 2015 May 27.

Vall D'Hebron Research Institute and Centre for Biomedical Network Research on Rare Diseases (CIBERER), Barcelona, Catalonia, Spain.